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Identification of amygdala-expressed genes associated with autism spectrum disorder / Maria Jesus HERRERO in Molecular Autism, 11 (2020)
[article]
Titre : Identification of amygdala-expressed genes associated with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Maria Jesus HERRERO, Auteur ; Dmitry VELMESHEV, Auteur ; David HERNANDEZ-PINEDA, Auteur ; Saarthak SETHI, Auteur ; Shawn SORRELLS, Auteur ; Payal BANERJEE, Auteur ; Catherine SULLIVAN, Auteur ; Abha R. GUPTA, Auteur ; Arnold R. KRIEGSTEIN, Auteur ; Joshua G. CORBIN, Auteur Article en page(s) : 39 p. Langues : Anglais (eng) Mots-clés : ASD genes Amygdala Autism spectrum disorder Brain development Single nucleus RNA sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Studies of individuals with autism spectrum disorder (ASD) have revealed a strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD is characterized by social deficits and a range of other phenotypes, implicating complex genetics and involvement of a variety of brain regions. However, how mutations and mis-expression of select gene sets are associated with the behavioral components of ASD remains unknown. We reasoned that for genes to be associated with ASD core behaviors they must be: (1) expressed in brain regions relevant to ASD social behaviors and (2) expressed during the ASD susceptible window of brain development. METHODS: Focusing on the amygdala, a brain region whose dysfunction has been highly implicated in the social component of ASD, we mined publicly available gene expression databases to identify ASD-susceptibility genes expressed during human and mouse amygdala development. We found that a large cohort of known ASD susceptibility genes is expressed in the developing human and mouse amygdala. We further performed analysis of single-nucleus RNA-seq (snRNA-seq) data from microdissected amygdala tissue from five ASD and five control human postmortem brains ranging in age from 4 to 20?years to elucidate cell type specificity of amygdala-expressed genes and their dysregulation in ASD. RESULTS: Our analyses revealed that of the high-ranking ASD susceptibility genes, 80 are expressed in both human and mouse amygdala during fetal to early postnatal stages of development. Our human snRNA-seq analyses revealed cohorts of genes with altered expression in the ASD amygdala postnatally, especially within excitatory neurons, with dysregulated expression of seven genes predicted from our datamining pipeline. LIMITATIONS: We were limited by the ages for which we were able to obtain human tissue; therefore, the results from our datamining pipeline approach will require validation, to the extent possible, in human tissue from earlier developmental stages. CONCLUSIONS: Our pipeline narrows down the number of amygdala-expressed genes possibly involved in the social pathophysiology of ASD. Our human single-nucleus gene expression analyses revealed that ASD is characterized by changes in gene expression in specific cell types in the early postnatal amygdala. En ligne : http://dx.doi.org/10.1186/s13229-020-00346-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 39 p.[article] Identification of amygdala-expressed genes associated with autism spectrum disorder [Texte imprimé et/ou numérique] / Maria Jesus HERRERO, Auteur ; Dmitry VELMESHEV, Auteur ; David HERNANDEZ-PINEDA, Auteur ; Saarthak SETHI, Auteur ; Shawn SORRELLS, Auteur ; Payal BANERJEE, Auteur ; Catherine SULLIVAN, Auteur ; Abha R. GUPTA, Auteur ; Arnold R. KRIEGSTEIN, Auteur ; Joshua G. CORBIN, Auteur . - 39 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 39 p.
Mots-clés : ASD genes Amygdala Autism spectrum disorder Brain development Single nucleus RNA sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Studies of individuals with autism spectrum disorder (ASD) have revealed a strong multigenic basis with the identification of hundreds of ASD susceptibility genes. ASD is characterized by social deficits and a range of other phenotypes, implicating complex genetics and involvement of a variety of brain regions. However, how mutations and mis-expression of select gene sets are associated with the behavioral components of ASD remains unknown. We reasoned that for genes to be associated with ASD core behaviors they must be: (1) expressed in brain regions relevant to ASD social behaviors and (2) expressed during the ASD susceptible window of brain development. METHODS: Focusing on the amygdala, a brain region whose dysfunction has been highly implicated in the social component of ASD, we mined publicly available gene expression databases to identify ASD-susceptibility genes expressed during human and mouse amygdala development. We found that a large cohort of known ASD susceptibility genes is expressed in the developing human and mouse amygdala. We further performed analysis of single-nucleus RNA-seq (snRNA-seq) data from microdissected amygdala tissue from five ASD and five control human postmortem brains ranging in age from 4 to 20?years to elucidate cell type specificity of amygdala-expressed genes and their dysregulation in ASD. RESULTS: Our analyses revealed that of the high-ranking ASD susceptibility genes, 80 are expressed in both human and mouse amygdala during fetal to early postnatal stages of development. Our human snRNA-seq analyses revealed cohorts of genes with altered expression in the ASD amygdala postnatally, especially within excitatory neurons, with dysregulated expression of seven genes predicted from our datamining pipeline. LIMITATIONS: We were limited by the ages for which we were able to obtain human tissue; therefore, the results from our datamining pipeline approach will require validation, to the extent possible, in human tissue from earlier developmental stages. CONCLUSIONS: Our pipeline narrows down the number of amygdala-expressed genes possibly involved in the social pathophysiology of ASD. Our human single-nucleus gene expression analyses revealed that ASD is characterized by changes in gene expression in specific cell types in the early postnatal amygdala. En ligne : http://dx.doi.org/10.1186/s13229-020-00346-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427